Disease Term Disease ID Gene Symbol Classification References Source
Autoimmune Syndrome Type II, Polyglandular C0085860 AIRE Causal Pathogenic evidence from ClinVar 16982213 ClinVar
Polyglandular Type I Autoimmune Syndrome C0085859 AIRE Causal Pathogenic evidence from ClinVar 1836330, 9398839, 9398840, 9717837, 9837820, 9856486, 9888391, 9921903, 10677297, 11274163, 11275943, 11524731, 11524733, 11600535, 11836330, 12050215, 12173302, 12625412, 14974083, 15649886, 15712268, 15811934, 16114041, 16166780, 16965330, 16982213, 17118990, 17189144, 17220063, 17289071, 17675238, 18292755, 18426830, 18616706, 18682433, 18708298, 18728167, 19265170, 19446523, 19758376, 19807739, 20185822, 20407228, 20453472, 20718774, 21295522, 21508664, 21724609, 22024611, 22104652, 22162465, 22450362, 22460196, 23133448, 23342054, 24158785, 26084028, 26114819, 26141571, 26915675, 27048654, 27426947, 27504588, 27588307, 28446514, 28567288, 28919897 ClinVar
Polyglandular Type III Autoimmune Syndrome C1535942 AIRE Causal Pathogenic evidence from ClinVar 16982213 ClinVar